title: Study of environmental and genetic factors in children with craniosynostosis: A case-control study.
abstract: BACKGROUND
  Craniosynostosis is a congenital defect that causes one or more sutures on an infant's skull to close earlier than normal. Though both genetic and environmental factors play a role in its pathogenesis, there is no published Indian data to verify this.
  
  
  METHODS
  In this case-control study, we investigated the association of craniosynostosis with parental age in 50 children with craniosynostosis attending the surgical outpatient department of a tertiary care institution in North India.
  
  
  RESULTS
  There was a significant association of craniosynostosis with advanced parental [OR 2.17 (95% CI 1.08 to 4.36)] but not maternal age. Education status of parents also revealed that those having a higher education had an increased risk of having a child with craniosynostosis [maternal education, OR 2.32 (95% CI 1.2 to 4.76); paternal education, OR 2.51 (95% CI 1.21 to 5.0)]. Molecular analysis by sequencing confirmed following amino-acid substitution in different Exons of the FGFR2 gene. Besides these, we found other novel identical mutations in FGFR2 gene in both syndromic and non-syndromic craniosynostoses.
  
  
  CONCLUSIONS
  This is the first epidemiological study in India that provides evidence that, advanced paternal age and higher parental education level might be associated with an increased risk of craniosynostosis. New mutations were identified in cases of both syndromic and non-syndromic craniosynostosis.
authors.affiliation: Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Mayadhar
authors.initials: M
authors.lastname: Barik
authors.forename: Minu
authors.initials: M
authors.lastname: Bajpai
authors.forename: Rashmi Ranjan
authors.initials: RR
authors.lastname: Das
authors.forename: Shasanka Shekhar
authors.initials: SS
authors.lastname: Panda
keywords: Case-control study; craniosynostosis; fibroblast growth factor receptor; pediatric